Symptoms update - fatigue and walking speed

Reflecting back on posts this year, I can see that there have been quite a few more symptom update posts than in previous years. Perhaps this means that my symptoms are changing more quickly.

Two observations for this post - firstly I went away for a weekend with some friends the other week, which included walking between a few pubs one evening. It is quite clear to me that my walking pace is substantially slower than it was. As long as I keep at the pace I want to go I dont have any issues with tripping or balance, but if I try to walk faster then my feet do trip up more.

Secondly, I've been finding that I am feeling quite fatigued recently. There hasnt been much change in the number of hours that I sleep recently, but I am finding that I wake up tired, and feel tired for most of the day. I have been talking with a lot of people at work about disability this week, and I reflected that it might be my fatigue which hits me at work before any of the mobility issues.

A little more on that topic to round off this post. At work a colleague and I co-chair our companies employee network for people with disabilities and long term health conditions (alongside our usual day-jobs). We've had a week where we've been trying to raise awareness about many aspects of disability, including me doing a session wearing my Chair of the HSP Support Group hat. It has been really good to help people understand some of the many aspects that people with disabilities and health conditions have to deal with.

Nerve stimulation research update

I heard about this story on the radio one morning recently. The story reported how nine people who had lost their mobility through spinal cord injury were able to become mobile again, having used epidural electrical stimulation.

I had not heard of epidural electrical stimulation before. A quick search reveals that a small device is implanted over the protective coating of the spinal cord. The device then produces electrical currents to the lower part of the spinal cord which was not previously able to communicate with the upper part. (https://www.medicaldevice-network.com/comment/epidural-stimulation/) What I am not clear about is if this is referring to upper and lower in the context of the site of the issue with the spinal cord or if they are using upper and lower in terms of neurons. The image in the story (link below) shows a spinal cord injury high up along the spine and the device shown implanted in the lumbar spine.

We know that the upper motor neurons degrade over time, which breaks the chain of communication between the brain and the lower motor neurons. My understanding is that in HSP the degradation of the upper motor neurons occurs throughout the nerve rather than at a specific point along the nerve. This suggests that the lower part of the upper motor neurons will have had some degeneration, making external electrical stimulation more challenging. If the epidural electrical stimulation can talk with the lower motor neurons then I hope that there is a potential for use in HSP. I spot a gap here in my understanding of the spine and the upper and lower motor neurons! 

The other sides to the story I heard was that they were using an AI system with stimulating the nerves to be able to help people regain their mobility better. They also reported that general levels of nerve communication were lower when this was being used, which they were speculating was a big reduction in the feedback signals being sent back up to the brain (and not being received due to the spinal cord injury).

This latter aspect gave me thought for reflection - I know that feedback for things like bladder and bowel are affected, giving cause for the often experienced incontinence with HSP, and it also makes sense that some people lose their sensitivity to vibration in their legs. I suspect that I had been focussing most on the communication from the brain above the various forms of information that the brain receives back from the lower body.

The story which was talked about on the radio was this one, from Nature, from a team in Switzerland: https://www.nature.com/articles/s41586-022-05385-7

Potential Exoskeleton Walking Solution

I saw this article in New Scientist recently, which may have the potential to help those with HSP.

Various research into exoskeletons has shown that they can improve gait, but it is claimed that this research hasnt converted into real world benefits as all the studies have been in laboratory conditions. This study uses two prototype ankle exoskeletons to help people walk, and has used an AI system to learn about how people walk in real world situations and is able to deliver benefits in the real world.

This study used ten healthy participants in their 20s, and they report that there was a 9% increase in walking speed and a 17% reduction in energy used to walk. They found the exoskeleton relatively easy to used, and the AI is reported to be able to learn quickly. The paper reports that substantial development work would need to occur to develop this into a finished product.

It occurs to me that the spasticity from HSP makes people walk slower, less efficiently and people need to use more energy for the same walk. I wonder if this kind of product would help people in the earlier stages of HSP maintain their full independence for longer and make it easier to get out and about. 

New scientist article: https://www.newscientist.com/article/2341275-exoskeleton-boots-learn-how-you-walk-to-help-improve-your-gait/

Full paper: https://www.nature.com/articles/s41586-022-05191-1

Image of the exoskeleton from the paper:

I'm pleased to see that the full paper is open access, meaning that anyone can read about this.

Update from Australia

 There has been another interesting update from the Australian HSP research group.

As usual their updates are categorised, with research updates and living with HSP updates. On their living with HSP page they report the following:

• They acknowledge that as HSP is a chronic progressive condition, people are more at risk of mental health conditions. They highlight the Australian R U OK? campaign (https://www.ruok.org.au/), and there are similar campaigns in other parts of the world. I encourage anyone feeling low to try and seek out a conversation.
• They report a study from July identifying that mindfulness can separate pain and the suffering from pain (https://www.sciencedaily.com/releases/2022/07/220708162754.htm). Pain is a common symptom for people with HSP, and I hadnt thought that mindfulness could be a treatment to reduce the impact of pain.
• Another page goes into more detail about why stretching is useful for people with spasticity - https://hspersunite.org.au/better-understanding-spasticity/. HSP tends to make the muscles in the lower body more spastic, and the common advice for people with HSP is to undertake a series of regular stretching. This article gives some of the background behind this. If you're not sure which stretches help which muscles, or indeed which stretches are best for you speak to a physiotherapist or look at TreatHSP (https://www.treathsp.net/en/clinic/physiotherapy) or the HSP support groups.

I was also pleased to see my own post on sex and disability here! - You can go and read all articles here: https://hspersunite.org.au/news/living-with-hsp/  

On the research front they report that:

• a gene therapy is under development for SPG49, 
• neuroinflammation may be important for people with SPG11,
• new research highlights that verbal fluency, memory and executive function can be affected in people with SPG11,
• there is an overlap in some people with HSP and Multiple Sclerosis
• SPG87 is reported to have been found in both 'pure' and 'complex' forms - 'complex' HSP is most often used to represent there being additional symptoms beyond the usual lower body spasticity.  

There are other stories reported as well - you can read more here: https://hspersunite.org.au/news/research-highlights/

I know its just my perspective, but it always takes me a few minutes to remember that Australia is in the southern hemisphere when I get their Spring update in my inbox in September/October!

2022 Survey Open

I am pleased to announce that my 2022 survey is now open. 

This is my 10th survey. I am analysing changes in mobility aid use for anyone who has completed any of my previous surveys. If you have completed any of my previous surveys I ask that you please take some time to answer these questions.

The questions are available in English, Dutch, Italian, French, Spanish, German and Portuguese. These languages are the same as last year. Click on the relevant link in the table to below to access the questions in that language.

The focus for this years survey is: 

• Mobility
• Pain
• Disclosure
• Life with HSP
• Menstrual health

As previously my analysis of answers will take into account both mobility and wellbeing. I will collect answers until approximately the end of 2022, with results published on Rare Disease Day 2023 - Tuesday 28th February. Also, as before only "name" and "country" are required questions. Answer all others that you want.

If you are using your phone to complete this survey I suggest you rotate your screen to landscape to make answering the questions easier. 

Language	Link to access survey:	Responses 30 Dec
English	https://forms.gle/u3PfSNHUZzGGvBpU6	263
Dutch	https://forms.gle/Ftn53UpFxbN7KWjp6	51
French	https://forms.gle/HKAovdAscgK7Njyd7	61
German	https://forms.gle/o4achYc6ya9QWMkq8	35
Italian	https://forms.gle/JFNGfAnk7UQMGB437	15
Portuguese	https://forms.gle/gy7PBbgBt3KkkVHK8	63
Spanish	https://forms.gle/FANkK3eQp77UdxQ76	42

2nd December update

A brief analysis of the English results (as this is the biggest dataset so far) shows the following points:

• Roughly 90% of people consider themselves to be disabled.
• Most people have or would disclose their HSP to others
• Between a quarter and half of people experience more pain, spasticity, fatigue or worse mental health during their menstrual cycle.
• About three quarters of people get pain from their HSP, with the most common descriptors being cramping pain, aching pain or tiring/exhausting pain. Pain is most intensely felt in the hips, legs, feet or back.

Symptoms update - antidepressants

Just a brief update for today.

In addition to my bladder medication I am now also taking antidepressants. Really this is a combination of things happening at the same time, rather than something specific to do with HSP. Therefore this post goes further outside my HSP experiences than they usually do. I'm grouping each of the factors together in headings:

HSP

In the background of my mind I know that my HSP is progressing. My spasticity gradually increases, and my walking and cycling speeds correspondingly gradually decrease. I know that the time that I will need to use mobility aids is approaching, and I've a journey of acceptance to go through before I get there. At that point my HSP becomes much more visible, and I suspect that societies view of me will change because I'll be using mobility aids.

Relationships

I've vaguely alluded to this in a few posts, but here it is explicitly - another factor is that my wife and I separated in 2020. That has been a bit of an impact recently, and we're now moving into the zone where its time to sort out houses. One of my uncertainties in this decision is how much account should I take of my future HSP in this decision - if I assume that I would be in my next house for 10 years, then I think I'd more than likely be using a wheelchair by that point (but not necessarily full-time).

Work

What with both of the above factors, and supporting my children, there are more things which I perceive to be important outside of work than at work. This has meant that I've been less able to put my full enthusiasm into delivering my responsibilities at work.

Coronavirus

Worth mentioning that there's been a worldwide coronavirus pandemic, an energy crisis and a whole load of other negative other stories in the news. Part of me is thankful that the pandemic lockdowns hit just after we separated as most people were busy looking after themselves rather than asking me what was going on. On the other hand, if there hadn't been a pandemic then perhaps we'd have sorted the house and other things out by now.

How long on antidepressants?

I'm thinking that I'll be taking these antidepressants until after the uncertainty around the house is resolved. I've asked myself if I've noticed any difference with taking these, and the answer is that I'm not sure. The main obvious difference is that since I have started taking them my resting heartrate has dropped significantly, which is a sign that they are doing something!

2022 AGM - Molecular Basis of HSP

This post describes the information given to the UK HSP Support Group at one of their AGM presentations via Zoom in 2022.

The presentation was given by Prof Andrew Crosby and Dr Emma Baple from Exeter University. They gave an overview of the work that their team has been doing in recent years. The HSP support group had part-funded Olivia Rickman for her PhD studies, and this presentation was to report to members the outcomes of the research that we had funded. You can watch the full presentation here: https://www.youtube.com/watch?v=Mfk6qap2ric

Commonalities

They began by describing that their work covers more than just HSP, and that there is learning from different motor neuron disorders that helps improve the understanding of HSP, and similarly the work on HSP often helps understanding of other motor neuron disorders. Several of these motor neuron disorders (including HSP) affect the upper motor neurons, and there are a range of similarities in these conditions.

HSP genes

Their work has been looking at genes, with the human  having some 22-25,000 genes, of which about 7,000 are understood. Genes code life, and their job is to make proteins, which then go on to build up life. Their team have discovered 16 genes which are responsible for HSP so far. Once identified these genes offer the potential for genetic testing for families and can give insights into how HSP works. HSP changes the genetic coding of the gene, which then affects how the protein is made. Their work then seeks to understand how the HSP affects the proteins, the role of the protein within the cell, and how the change made by HSP affects that role. With this they can find out what the motor neuron is supposed to be doing, and why it is not doing that with the HSP, which offer the potential to investigate options to intervene. 

Genetic Testing

In England the genomic medicine service was recently launched, which allows whole genome sequencing. This sequencing takes a matter of days to give the whole genetic sequence. There are two panels of genes that are tested against for HSP, there is a panel with 76 genes currently for adults and 70 genes currently for children. Some genetic conditions have genetic overlap with multiple conditions, and there is a broader panel of neurodegenerative conditions which can be used, which tests against 96 genes, some of which are HSP genes.

Despite knowing about all of the HSP genes discovered so far, a genetic diagnosis of HSP can only be given to about half of people, which indicates that there are still a lot more HSP genes to be discovered. It is understood that the majority of the more common genes for HSP have been identified, which means that those genes which have not yet been identified will each affect a relatively small number of people.

Commonalities between HSP types

One of the key questions is why are there so many different genes which cause HSP - in more detail do these genes all have unrelated functions or roles or do these genes work together in common pathways within the cell. It is thought that the common pathways are more likely, so that any of the HSP genes can affect one of the common pathways, giving rise to HSP. Essentially the symptoms of HSP arise because of a problem in the common pathway. The main issue with these studies is that the function of many of the genes understood to cause HSP are not known or not well known, so identifying the common pathway is difficult.

Two of the HSP genes discovered by the team are in pathways which are well understood, so this gives a good link between HSP and these pathways, and allows understanding of HSP on the pathways to be explored. One of these is CYP7B1 on the cholesterol pathway and the other is EPT1 on the kennedy pathway. Both pathways are to do with processing fats and cholesterols, which show that these fats and cholesterols are important for HSP.

The team then looked at the other genes which have been associated with HSP to examine if these are associated with those pathways. There is some evidence which links some of these genes to these pathways. One of their recently identified HSP genes (TMEM63C) was also found to be at a key location for the fat processing routine.

Future work

When looking at the plans for future studies they are focussing on two areas. One area is to continue to find more HSP genes to understand more about the pathways and how they are affected with HSP. The other area is to look at the fat processing pathways and to understand what happens when the pathway is disrupted by HSP. Whilst these pathways are understood to some degree, the differences between how they work within different cell types is not so well knows. This area is challenging and new processes have been developed for the analysis work. They have been creating cell models for HSP and editing the genes to take the gene out. This then allows the cell to work in a similar way to how they would work in a person, and this then allows the cell functions and associated impairments to be studied.

The team are using this technique to be able to compare different types of HSP to be able to examine similarities and differences in the fat processing pathways to be able to confirm which HSP genes are involved in these common pathways.

  

  

2022 AGM - Overview of UK Benefits

This post describes the information given to the UK HSP Support Group at one of their AGM presentations via Zoom in 2022.

The presentation was given by Janet McBride from Citizens Advice (https://www.citizensadvice.org.uk/). It was an overview of the different types of benefits that those in the UK with HSP may be entitled to. Janet began by summarising the four main types of benefit which are likely to be relevant:

• Disability
• Sickness
• Low income
• Carer

Each of these is covered in a section below. The general approach for these benefits is to begin your claim by telephone, so that the date you claim the benefit from is as early as possible. Using the telephone makes the start point the day you contact them rather than the date that they have finished processing your application.

You can check which benefits you may be entitled to using one of these tools before spending a long time filling in complex forms and attending appointments. Entitled to: https://www.entitledto.co.uk/ or turn to us: https://benefits-calculator.turn2us.org.uk/

You can get help from citizens advice on any of these. If you dont like the decision on benefits then you can challenge the decision - but challenges can be difficult to be agreed unless there is new compelling evidence. You need to tell the benefit department if you have a change in circumstances. Further information can be found on https://www.citizensadvice.org.uk/.

You can watch the presentation directly on YouTube: https://www.youtube.com/watch?v=XgAImXb5YI0 

Disability Benefits

The disability benefit is not means tested. The specific benefit you would apply for depends on your age. Those under 16 would apply for Disability Living Allowance (DLA), those in retirement would apply for the Attendance Allowance, with all others applying for Personal Independence Payment (PIP). 

DLA is available for children who need more care than children who aren't disabled and/or who have difficulty moving around/safely compared with children who aren't disabled. Children must have been disabled for at least 3 months and are expected to remain so for at least another six months. There are two elements for DLA, a care element and a mobility element. There are different rates within each element, and you may get one or both elements, paid weekly. This benefit is available from the DWP: https://www.gov.uk/disability-living-allowance-children

PIP is available for adults who find everyday tasks hard, who have found these things hard for at least three months and are expected to find them hard for at least another nine months. Needs are assessed against 10 daily living different activities and two mobility activities. Each activity is scored, and there are thresholds for a 'standard' and 'enhanced' allowance. You may get either the daily living part and/or the mobility part, paid weekly. This benefit is available from the DWP: https://www.gov.uk/pip

Attendance Allowance is for people who need others to physically attend to them during the day and/or the night. There are two elements, the day element and/or the night element. This benefit does not cover mobility issues. Further details here: https://www.gov.uk/attendance-allowance

Sickness Benefits

If you are ill whilst you are employed you are likely to be able to get Statutory Sick Pay, otherwise the New-style Employment and Support Allowance (ESA) or New-style Job Seekers Allowance (JSA) are potentially available.

Statutory sick pay is payable to employees (i.e. not self employed) when you are sick for at least four days in a row and you have followed your employers rules. This is payable weekly up to 28 weeks. You may be entitled to contractual sick pay, so check with your employer if this is the case. Details here: https://www.gov.uk/statutory-sick-pay

New-style ESA is available if you are self employed or if you are still sick after your 28 weeks of statutory sick pay. You must have sufficient national insurance contributions. This is paid weekly. Details here https://www.gov.uk/guidance/new-style-employment-and-support-allowance

New-style JSA applies if you have decided that you are not likely to be able to return to your original job, but you are likely to return to work in a different role. You must have sufficient national insurance contributions. This is paid weekly. Details here: https://www.gov.uk/guidance/new-style-jobseekers-allowance

Low Income

Universal Credit is available if you are too ill to work and you don't have enough to live on. It is the main means tested benefit for people of working age. There are a number of elements to this benefit above the standard amount, including housing, children, childcare, sick or disabled and carer. There are a whole host of criteria which need to apply. If you are sick or disabled you may get more money, and you may not have to look for work whilst claiming this benefit. Details here: https://www.gov.uk/universal-credit 

Pension Credit is for people who are above pension age and who dont have enough to live on. There are two parts, guarantee credit and savings credit (savings credit for people who reached state pension age before 6 Apr 2016). Claiming pension credit can increase the value of other benefits. Details here: https://www.gov.uk/pension-credit 

Carers Allowance

This is available if you spend at least 35 hours a week caring for someone and you earn less than £132 a week after deductions. The person you are caring for must also be getting at least one of specific benefits. If you care for someone for at least 20 hours a week you can get carers credits to help with national insurance and allow you to claim some other benefits. This benefit is an income replacement benefit. You can only apply for one income replacement benefit, so for example you could not receive carers allowance at the same time as getting a state pension or contributory JSA/ESA. But, you may be able to get a premium added to other benefits. Details here: https://www.gov.uk/carers-allowance

SP Foundation 2022 Conference

The USA HSP group, the SP Foundation, held their annual conference a couple of weeks after the UK HSP Group. They have put their conference up on their YouTube channel. There are some interesting presentations made. I've not watched all of these in full, but have dropped in and scan watched to get a feel of these.

John Fink gives advice on how to exercise with HSP. https://www.youtube.com/watch?v=lnWNVQoAEoI - he gives approaches how how to dance with HSP to promote exercise, muscle movement and brain training. He includes a summary of treatments for HSP symptoms.

Chelsea Burton talks about symptomatic management of spasticity. https://www.youtube.com/watch?v=ffYBcmzK24A - She covers in detail what happens to muscles with spasticity, both positive and negative. She describes different physical therapy options - starting with stretching, and covering orthotics, ultrasound, FES, strength training and other options. She also gives details of various spasticity medications.

Angie and Jeremy McCord give the meeting some exercises to do! https://www.youtube.com/watch?v=EkB9pztTYyc Some of these use exercise bands.

Darius Ebrahimi-Fakhari talks about lessons learnt in childhood HSP. https://www.youtube.com/watch?v=kcUtKubq9io - he describes their cohort of children with HSP, and talks about approaches for drug discovery, looking to develop in cell testing for drug repurposing. 

Hande Ozindler talks about developing treatments for upper motor neuron diseases. https://www.youtube.com/watch?v=5naax-hv__E - She talks about how her lab are researching treatment options for upper motor neuron degradation. 

Peter Baas gives an overview of HSP, and then talks about options for investigating treatments for SPG4.  https://www.youtube.com/watch?v=5llJfLCf8gs#

There is a panel discussion taking questions from the audience: https://www.youtube.com/watch?v=p7XrluYZwUU. John Fink then answers some more questions! https://www.youtube.com/watch?v=KGyjiCUqjSc

Successful 2022 support group AGM

I'm pleased to report that last weekend the UK HSP Support Group successfully held its AGM. We took the decision to hold this virtually to make it accessible to as many people as possible.

I think that it went very well, and we had lots of different speakers popping in to say a few words, which was really good and stopped people getting bored of hearing the same voice speaking all the time.

You can watch the AGM here: https://www.youtube.com/watch?v=iJkWzmnx9eY

The highlights of the AGM are:

• What is HSP? (01:11)
• Cardiff dissertations (07:40)
• Estelle runs London Marathon (18:27)
• 1000 Mile Challenge report (19:37)
• Potato Pants festival (21:23)
• Raising awareness award (38:42)
• Fundraising award (41:24)
• Summer presentations (48:14)

The discussion after was also good, and the group is going to investigate compiling a list of the different HSP specialists that people see, as this will help people seek out where they can see a specialist at the beginning of their HSP journey or at times later down the line when they start to experience symptom changes more rapidly.